ABSTRACT
<p><b>OBJECTIVE</b>To investigate the expressions of different forms of ROS fusions in Chinese patients with cholangiocarcinoma (CCA).</p><p><b>METHODS</b>RT-PCR was employed to examine formalin-fixed and paraffin-embedded CCA samples from stage I-IV patients for detection of ROS fusions involving Fused in Glioblastoma (FIG), solute carrier protein (SLC34A2) and major histocompatibility complex class II invariant chain (CD74). Serpin peptidase inhibitor clade A member 1 (SERPINA1) was detected as the reference gene.</p><p><b>RESULTS</b>In all the 56 CCA samples, 80.4% (45/56) were positive for SERPINA1 expression as evaluable samples. Of these evaluable samples, none expressed the ROS fusions.</p><p><b>CONCLUSION</b>ROS fusions are not common in Chinese CCA patients.</p>
Subject(s)
Female , Humans , Male , Middle Aged , Antigens, Differentiation, B-Lymphocyte , Genetics , Metabolism , Bile Duct Neoplasms , Metabolism , Pathology , Carrier Proteins , Genetics , Metabolism , Cholangiocarcinoma , Metabolism , Pathology , Gene Expression , Histocompatibility Antigens Class II , Genetics , Metabolism , Membrane Proteins , Genetics , Metabolism , Oncogene Proteins, Fusion , Genetics , Metabolism , Paraffin Embedding , Protein-Tyrosine Kinases , Genetics , Metabolism , Proto-Oncogene Proteins , Genetics , Metabolism , Sodium-Phosphate Cotransporter Proteins, Type IIb , Genetics , MetabolismABSTRACT
<p><b>OBJECTIVE</b>To identify the mutation of solute carrier family 34 member 2 (SLC34A2) gene in a Chinese family with pulmonary alveolar microlithiasis (PAM).</p><p><b>METHODS</b>Genomic DNA was extracted from the family members. DNA sequencing was carried out to confirm the mutation detected by polymerase chain reaction-single strand conformation polymorphisms (PCR-SSCP). The fragments with variation were screened in 100 healthy controls by PCR-SSCP.</p><p><b>RESULTS</b>In both patients of the family, a homozygous mutation of the SLC34A2 gene was identified in exon 8 (c.A910T), resulting in a premature stop codon. In addition, a homozygous single nucleotide polymorphism (SNP) was found in intron 2 in both patients and the daughter of proband.</p><p><b>CONCLUSION</b>A novel homozygous mutation in SLC34A2 gene, leading to a premature stop codon therefore a truncated protein, was probably responsible for the PAM in this family. The SNP in intron 2 needs further study.</p>